Patient 19 (Dad's dream come true)

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927361/

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants Laurence Gauquelin, et al.

The above link is a medical research paper that discusses the 23 known people who have the same affected gene as Cicily: POLR1C.  When we found out about this huge genetic news in November 2016 Chris hoped that Cicily would be "patient C" in a research study.  Three years later, his dream has been realized as Cicily has become patient 19!
Of course I read the whole paper and yes I actually understand most of it.  I do have a good amount of research under my belt on leukodystropy.  I realize most people reading this do not have that background knowledge or care to read a full article so I'll give bullets pertinent to Cicily.

Of note in the paper:

• Cicily's picture is featured as the only photo.  Check it out @1/2 way in. 
• Cicily is the only person of the 23 who has Treacher Collins Syndrome and white matter disease.  (Hence the photo.) 
• 4 people have minor craniofacial differences (very minor similarities to Treacher Collins Syndrome). 
• 13/23 people require the use of a wheelchair.
• Cicily is the only person who ticked all boxes on the table of demographic, clinical data (things such as dystonia, myopia, abnormal dentition). 
• 5 other known people (not included as the 23 patients in this study, but mentioned) have Treacher Collins Syndrome but no significant leukodystrophy (brain disease) involvement.  

Essentially it's just pretty shitty to be the worst of the worst.  When my source of sunshine was around it was easy to talk about things like this with her and find something for us both to smile about.  But I'm coming up short today, two days after we commemorate her death 3 years ago.  All I can say is Cicily wouldn't have been the same if she hadn't ticked all those boxes.  And she is amazing and lived a big happy life.    

We are so glad that these doctors are continuing to research POLR1C and its affects on people.  We are very happy to be in contact with these researchers and provide continuing data from Cicily's experience for them to publish. 

Monument

 When my mate Islay was here from New Zealand for Cicily's funeral she mentioned this tradition over there of an unveiling for a new headstone.  The Maori tradition is that a year or so after a person dies, after the most deepest grieving is through, they have a gathering to reveal the person's memorial.  The more Chris and I thought about this tradition, the more we loved it and decided to do it for Cicily.  Except we put our tradition spin on it of getting a grave marker as soon as possible.  Cicily's monument was installed this weekend and today we had the unveiling.  We weren't really sure what one does at an unveiling, but my friend Mandy suggested polka dot heart sugar cookies which sounded perfect!  Here's some of the unveiling attendees.

 The monument in a drape.

 Sophie wanted to be the one to actually do the reveal.  Except she kinda loves keeping people in suspense and gets a little weird being at the center of attention.  So in the end she needed help from Maya who jumped in and claimed she was "the Force".  Together they removed the drape for the big reveal!  I'm sure Cicily was cracking up at both of her sisters in classic form.

And here it is! 

When Chris dedicated Cicily's grave, he said it would be a place of happiness and even laughter.  And it really is!  I cry and get sad tons of other times because I miss Cicily, but at the cemetery I almost always end up thinking of happy memories and feeling proud to be this girl's Mom.  

This is the back.  John 9:3 is Cicily's special scripture.  It's Jesus talking about the man who was born blind.  We believe that Cicily's mission on the earth was to make manifest the works of God and spread the light of Christ in the world.  

We wanted our family's names on the headstone so everyone would know who Cicily belonged to, but Maya thought it was a bit weird to have her name on a headstone.  I also really wished I could somehow acknowledge everyone who Cicily belongs to and who loves her.  So late one night, I had some inspiration and came up with the bottom portion.  "Many more" includes all of you who love Cicily and are more kind and loving because you know her.  And I have been so touched at all the people who have independently said thanks for including me on Cicily's headstone.

The roses are from our rose bush in the front of our house.  It feels so nice to grow something beautiful that I can leave at Cicily's spot. 

And the front.  (I'll have to get a better pic tomorrow morning in better light.)  

We think the memorial turned out absolutely perfect!  We really wanted it to represent Cicily: classic, beautiful, poignant, playful, and even silly.  Notice the hidden mickey mouse?  We like to think it's a joke Cis would crack up at!  The granite is almost a purple, Cicily's favorite color of course.  And POLKA DOTS!!!

We would like to give a salute to Pavel at Western Monument https://www.westernmonument.com/ for creating this beatiful memorial.  (And yes, he does create monuments for people out of state.)  Pavel is an artist and this is one way he has chosen to use his talents.  We talked with him a little about Cicily and together we came up with this beauty to remember her.  We thank you for making a work of art for Cicily's lasting memorial Pavel! 

Cicily's book

USES ADOBE FLASH.  FOR BEST VIEWING, USE A PC.  WAIT UNTIL BOOK LOADS AND THEN CLICK ON THE FULL SCREEN OPTION IN THE UPPER RIGHT CORNER.
If you don't have Adobe Flash, try this link: https://share.shutterfly.com/action/welcome?sid=0BasWTlu2as2E1&cid=SM-PBAPP

Create your own personalized photo books at Shutterfly.com.

Shutterfly gave us the most amazing gift when Cicily was on hospice.  They allowed us to make wonderful framed pictures, pillows, plates, canvas and jewelry with pictures of Cicily to fill our house with memories of our smiling girl.  They also gave us free photo books to share with her cousins.  So I made this book about Cicily for them to order.  I imagine it being read to her young cousins who weren't quite old enough to remember her in life or families reading together to reminisce.  And someday I'd like to read it to Cicily's future nieces and nephews so they can know all about their amazing aunt.  I know there are many more people who love her than just her family, so I wanted to share on here as well.  Forgive me if you are a special part of her life and are not included in the book as my focus was family for this project.  

Thank you so much Shutterfly for your legacy gift to us.  We will certainly be life-long customers and supporters of your great, compassionate company!  

With great gratitude

I wanted to put a shout out there to all the amazing people who have done something for our family while Cicily was sick and after she died.  

We have been the humble recipients of dinners, foot massages, homemade pillows, flowers, paintings, sculptures, and more.  Each and every gift and gesture of love and compassion has meant so much to us and truly lifted our heavy hearts.  Thank you, thank you to all who have blessed our lives these past months.  

We have most especially appreciated every one of you who has participated in the power of prayer on our behalf.  We cannot deny the immense power and comfort that your prayers have blessed us with.  There is no earthly reason that accounts for being filled with grief at not being able to make Cicily smile; but still being able to find joy in life.  I know the joy we've found is possible because of so many prayers and the Holy Ghost comforting our hearts.  And so many friends mourning with us and sending us love and positive thoughts.  It has been truly amazing to feel of the very real power of comfort from prayer and love.  

Thank you to you who have prayed for us.

Thank you to you who have shared gifts with us. 

Thank you to you who have fed us.

Thank you to you who have cried with us.

Thank you to you who have asked us about Cicily.

Thank you to you who have listened to us talk.

Thank you to you who have shared Cicily stories with us.

Your acts of love have carried us.  

Why we say "died" instead of "passed away"

We may sound a bit harsh or nonchalant when we talk about Cicily dying in our family.  There are reasons for this I'd like to explain.
A couple weeks after Cis died I was talking to Sophie and happened to say in the conversation "the night Cicily passed away".  Sophie looked at me with her perturbed/serious look and said, "you can just say died Mom.  Cicily's not past.  She just died is all." I had to agree with Sophie's logic.  Cicily dying is something we've known would happen and something we've always been very open about in our family.  To Sophie dying is just another part of life.  A new chapter.  It's doesn't mean someone is "past" or "away" so to speak, it just means they're in another life where unfortunately we don't get to hang out.  So while it may not sound as polite or graceful to say "died", in our family that's what we say.
A friend of ours left this on my FB wall.  I thought it perfectly captures our family's feelings.  It's by Henry Scott Holland .

We love talking about Cicily and love it when friends talk with us about her.  Especially when it's easy, with "no forced air of solemnity or sorrow".  It was a difficult task when she had recently died.  We had to have a family discussion about the more we talk about Cicily in every day conversation, the more normal it will feel.  

So while we all miss her a ridiculous amount, and I in particular cry daily about it, we still like to talk about her and think about her as we always have.  

Recording of Cicily's services of remembrance

We got the recording of Cicily's funeral yesterday.  It's just over an hour long.  An hour very well spent!  It's perfectly Cicily - upbeat, happy and inspiring.  I know you're doubting because it's a funeral.  But it was important for us to honor Cicily in the way that she lived with laughter and love.  Enjoy!
 

Ray of sunshine

Cicily's farewell was absolutely beautiful today.  It was perfectly Cicily.  Thank you to all who came and helped make it perfect.  

 Drove past her body's resting place and took some pictures.  Check out that beautiful ray of sunshine.  Cicily is still spreading her light.  

She's not just yours

When Cicily was born she stayed in the NICU at the hospital for a few weeks.  While she was there I greatly disliked having a nurse tell me how best to comfort her (I've since silently thanked said nurse as her tip was helpful for Cicily's whole life) and I refused to wear gloves to hold her.  Cicily was MY baby and I was her Mom.  While I greatly appreciated the medical care she was getting, I did not appreciate that she needed care from anyone besides me.  While I was sitting by her bedside one day I had the distinct, undeniable feeling of the words, "she's not just yours".  Feeling these words did not make me recoil with deep annoyance like they should have, they came with a peace and understanding.  Heavenly Father was letting me know from the very beginning that Cicily was on this earth to be shared with others.  I was not the only woman in her life that would care for her, love her and learn from her.
So tonight I would like to acknowledge, pay tribute and show appreciation for all the people in Cicily's life who she came to be here with.  Our family has great love for all the nurses who cared for Cicily in our home.  We especially appreciate her besties (the long-termers) Kelly, Michelle, Ashli and Joy.  You all enriched Cicily's life in unique ways.  It was by divine design that each of you came into Cicily's life.
Tamara has been Cicily's school nurse for the past 8 years.  She started school with Cicily in preschool and continued to care for her, teach her, love her, and advocate for her the next 8 years.  We consider Tamara to be a 3rd grandma to Cicily.  And she has promised not to stop calling me as she has done every day Cicily went to school to give me a recap so I knew what to talk to Cicily about.
We love Cicily's teachers beginning when Cicily was a baby and JuLee (and her family) came into our lives to teach us sign language.  Then Cis went to preschool and had a wonderful teacher and aides.  Then Kindergarten and 1st grade where she had a master teacher who could whip out accomodations like most of us blink.  3rd grade where Cicily had a teacher so impressed with how well Cicily learned and worked hard to add on to her knowledge.  Then 4th grade where Cicily had not only an amazingly loving and inclusive teacher, but a whole school family.  A school family where kids from other classes said hi to her in the halls instead of staring, where she had a gaggle of girls hanging out with her and talking with her at recess, where she had friends who loved her because they understood and appreciated her.  Where she had a sped teacher who loved her and helped her play pranks and a principal who gave her a hard time about socks and cruised her around campus in a swing.
We thank the therapists who worked with Cicily and helped keep her strong and active.  Cicily loves so many of you for making hard work fun.
We respect and honor the doctors, assistants, staff, social workers, nurses, and hospital workers whose expertise and caring truly gave Cicily the best chances for a great life.  I really will miss waiting in your rooms and throwing around medical jargon with you.
We love our church congregation family who have learned with Cicily and been taught by her smile.  And who have allowed us to serve and and to be served and cared for.  We will forever adore you for giving us the gift of time with Cicily this past month.  Charity never faileth.
I have love for those strangers who smiled at Cicily or gave her extra attention.
And for all who have read this blog over the years for allowing me to share my Cicily with the world.  It may be a small audience, but it truly has covered the world.  And that makes my heart happy to know that Cicily's influence and love have been felt and shared and made the world a little brighter.

The last breath

I realized after telling some dear friends about Cicily's last day on earth, that I never shared it here.  It was the kind of day Cicily loved.  We went over to her Grandma DeEtte and Grandpa Courtney's house (We put ours up on the market to sell that day, I know worst timing ever, but things have just fallen into place even in the midst of the worst timing ever.)  Cousins were in town and Grandpa spent a couple hours being the tickle monster and making the house ring with little laughter because he knew Cicily loved it.  And it kept the mood nice and light and loving, something we all appreciated.  In the early afternoon I asked Chris to help me take Cicily upstairs to hang out in Grandma and Grandpa's bedroom where we could have more privacy as her breaths were more and more shallow and less and less frequent (not that a breath every 10-15 seconds is frequent).  In the next few hours, Cicily got to spend time holding her best cousin Lily's hand, listening to Maya practice a history presentation, and snuggling with family.  After spending an entire week at home, it was just the kind of idyllic day Cicily loved.  When it was dinnertime Chris went downstairs to help Maya and Sophie get dinner with everyone.  Grandma listened to Cicily's heart (grandmas were the breath counters all week :) ) and could barely hear it.  They were able to have a sweet moment and then Grandma went to get some food for me.  (What a beautiful thing to have a grandma who is caring for her daughter who is caring for her daughter.)  After Grandma left, Cicily didn't really breath for a while.  I ran to ask Chris to come upstairs.  He came and I looked at him and we both cried and hugged Cis.  Then she took a big breath and we had to laugh at her little joke.  But, we knew it was time and Chris went to ask Maya and Sophie to come upstairs.   Fortunately they were very obedient and hurried upstairs.  They were able to say bye to their Cis and then she took one more breath.
For the next several minutes we hugged and kissed our Cicily's dear body and cried (and yes in some cases, even farted) together.  Then we invited all the cousins and aunts and uncles and Grandma Sue and Grandpa Norm (who's had the BEST perspective on having his granddaughter die on his birthday!) and nurse Tamara to come in and love and hug and cry.  It was heartwrenching, and grief filled and sad, but also full of love and concern and charity.

A REALLY good 10 years

So I'm going through pictures of Cicily's life to have a video made.  It is making my heart very happy to see this smiling face living life.  It's a cliche country song to say she lived like she was dying, but when you have so many surgeries and find out you have a terminal condition, you focus a lot on living and living good.  Cicily really did live life and have every opportunity through her struggles to really enjoy her life.  

So I thought you all who loved her and have followed her adventures, might like a random sampling of Cicily's really good 10 years in a few pictures.  Enjoy!

Funeral

We will be having Cicily's funeral services Saturday May 13 at 11 with a viewing from 9-10:30. LDS church at 1430 N. Recker Rd. Mesa, AZ. We would love to have everyone that wants to come.  We will be keeping the services to under an hour and very child friendly.

May 6, 2017

I just did what I hope to be the most difficult thing I will ever do in my life.  I said goodbye to my Cicily's amazing body that has housed her powerful, courageous spirit for over 10 years.

A few hours before that, Cicily took her final mortal breath.  In impressively Cicily style, she waited patiently and gracefully until Mom, Dad, Maya and Sophie were all gathered around her before she finally let go.

Breathing

I've learned to greatly appreciate breaths being Cicily's Mom. I wish you all could see the tiny little breaths this girl is living on.  She's amazing. And I'm haunted knowing one of these bitty breaths will be her last.
I'll cherish this week I've had to snuggle my Cicily non stop.

And who would want to leave all this...

 Mommy reading books and being really good at knowing what I need. 

 My little sister brushing my teeth, putting eye drops in my eyes and helping me like I used to help her when she was a baby.

My big sister singing to me and spending time with me.  

And of course the most loving, entertaining Dad in the world.

Still here

Officially one week without food or water.  Getting more sleepy, but still attempting to sign a few times a day.

Heart of a lion

Cicily had a sleepier day today than yesterday.  She slept in until 10 am and then on and off again until noon.  While we were snuggling in our chair she made concerted efforts to sign.  As she didn't have the energy required to make a complete sign, I would tell her what her sisters were up to, get Lucy for a belly scratch or get books to read (as those are the most likely sign candidates).
Her breathing is still achingly slow, but apparently with the brave heart she has, 4-5 breaths a minute is all she needs.

Vigiling aint easy

I know many are checking continuously on Cicily, so I wanted to put something up here.  Truth is she's still breathing really slowly.  Sat in the chair all day today.  Had some great company.  She made a huge effort today to ask for something so we read books.  Then she asked for Sophie and Maya in turn tonight.
I think our little girl has just been so determined and fought so hard her whole life she doesn't even know how to let go.

Tuesday

 Didn't think you could survive long on 6 breaths/minute, but apparently Cicily can.  

Maybe she just needed one more book with Grandma?  Or one more joke with Dad?  Or one more snuggle with Mom?  Or one more fart joke from Soph?  Or one more story from Maya?
Don't worry, we've told her she can let go anytime.  We know her next life will be beautiful.  I can only imagine if she can do so much here without speaking, how much she'll be able to do to spread the love of Christ with a voice.

Vigil

Us girls got to spend all day snuggling and being taken care of by our Mom and Grandma.  Beautiful and heartbreaking.

Cicily is down to only 6-7 precious breaths per minute.  Last night was 9.

Still hanging on

our girlie is still hanging on. She's had slowed labored breathing since last night.
She appreciated everyone who came by yesterday. And was mostly awake but too sleepy to smile.
This morning she let me know she's ready to go. A huge comfort to an aching mommy's heart.
She was awake all afternoon looking at family memory books with all of us. And doing lots of "smiling on the inside" as Maya calls it.
She signed the only sign I've seen from her in days. It was "Maya".